Acute respiratory distress syndrome (ARDS) is a life-threatening lung condition that arises
from multiple causes, including sepsis, pneumonia, trauma, and severe coronavirus disease …

Background Diagnosing genetic disorders requires extensive manual curation and
interpretation of candidate variants, a labor-intensive task even for trained geneticists …

Background & Aims Biliary atresia (BA) is poorly understood and leads to liver
transplantation (LT), with the requirement for and associated risks of lifelong …

Background In the process of finding the causative variant of rare diseases, accurate
assessment and prioritization of genetic variants is essential. Previous variant prioritization …

Identifying disease-causing variants in Rare Disease patients' genome is a challenging
problem. To accomplish this task, we describe a machine learning framework, that we called …

Phenotype-guided gene prioritizers have proved a highly efficient approach to identifying
causal genes for Mendelian diseases. In our previous study, we preliminarily evaluated the …

There are more than 7,000 rare diseases, some of which affect 3,500 or fewer patients in the
US. Due to clinicians' limited experience with such diseases and the considerable …

This chapter provides an overview of how genomics is helping in the areas of diagnostics
and the discovery of new disease-associated genes, particularly for rare Mendelian …

Benchmarking whole exome pipelines is crucial for evaluating and comparing their
performance in variant calling and clinical significance annotation. It enables researchers …